title: [Genetics of male infertility].
abstract: Genetic causes of male infertility increase in frequency with decreasing sperm concentration (oligo-/azoospermia). The decision about genetic tests should be made after a complete andrological work-up. Common causes comprise chromosomal aberrations (including Klinefelter syndrome), microdeletions of the AZF loci of the Y chromosome, mutations in the gene responsible for cystic fibrosis (CFTR) causing CBAVD and in genes involved in hypogonadotropic hypogonadism (including Kallmann syndrome). Every genetic investigation should be accompanied by comprehensive genetic counselling to help with the interpretation of results and support the patient/the couple concerning consequences for their family planning and treatment options.
authors.affiliation: Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster.
authors.forename: F
authors.initials: F
authors.lastname: Tüttelmann
authors.forename: J
authors.initials: J
authors.lastname: Gromoll
authors.forename: S
authors.initials: S
authors.lastname: Kliesch
mesh_terms: D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D056426:Genetic Loci; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D017436:Kallmann Syndrome / Q000175:diagnosis / Q000235:genetics; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: D029589:Seminal Plasma Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator